The presence and progression of choroidal neurofibromas in a predominantly pediatric population with neurofibromatosis type-1

Background: Obtaining a definitive neurofibromatosis type-1 (NF1) diagnosis may take years. The natural history of choroidal neurofibromas in NF1 is unknown. This study evaluates a predominantly pediatric patient cohort for ocular features in NF1, including presence and progression of choroidal abnormalities, to determine their natural history, relationship to other NF1 features, and additive value in NF1 diagnosis. Methods: Retrospective analysis of 106 patients referred for Ophthalmic monitoring or diagnosis of NF1 between January 2012 and December 2018. Clinical records and Near-Infrared Reflectance (NIR) Optical Coherence Tomography imaging were analyzed for prevalence and progression of choroidal neurofibromas on NIR, and relation to other NF1 diagnostic criteria. Results: 54.7% of patients referred had a confirmed NF1 diagnosis, and 45.4% were NF1 suspects. First ophthalmic review resulted in an additional 6.6% patients meeting the diagnostic criteria, and 14.2% later developed sufficient features (total n = 80). Choroidal neurofibromas were present in 75.7% of patients that had NIR imaging and met diagnostic criteria, and detected in the absence of, or prior to Lisch nodules in 13.5%. Progression in the size and number of choroidal neurofibromas occurred in 26 eyes (32.5%) of 14 patients (35.0%), all under 16 years old. Patients without choroidal neurofibromas at first examination never developed them over the study period. Conclusion: Choroidal neurofibromas, detected by NIR imaging, are common in NF1, present early with frequent progression, and represent an additional tool to aid NF1 diagnosis in young children.

Automated summary

The study evaluated ocular features in NF1 patients and found that choroidal neurofibromas detected by NIR imaging are common, have early progression, and can serve as an additional tool for aiding NF1 diagnosis in young children.